Aljarad Sarah, Alhamid Ahmad, Hanifa Hamdah, Zayegh Obada, Ataya Jamal, Aljarad Ziad
Department of haematology, Damascus University Faculty of Medicine, Damascus, Syria.
Biomedical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Oxf Med Case Reports. 2025 Mar 28;2025(4):omaf006. doi: 10.1093/omcr/omaf006. eCollection 2025 Apr.
Aase-Smith syndrome type 2 is a rare genetic disorder that affects erythropoiesis and bone development, causing hypoplastic anemia and abnormalities in the fingers and toes, specifically triphalangeal thumbs. While there is no cure, treatment involves managing symptoms through blood transfusions, surgical intervention, and genetic counselling. A 15-year-old student presented with an unmeasured fever for two months, recurrent lung infections, difficulty in speech, and impaired gait. The patient had multiple congenital malformations including triphalangeal thumbs and a history of mild anemia. Bone marrow biopsy revealed an isolated slowing of erythroid lineage maturation. Radiology studies showed scoliosis, hand deformities, and multiple calcified lesions in the brain. The patient's fever exacerbated, and oxygen saturation deteriorated, necessitating tracheal intubation. Several hours later, the patient passed away.
2型阿塞-史密斯综合征是一种罕见的遗传性疾病，影响红细胞生成和骨骼发育，导致发育不全性贫血以及手指和脚趾异常，特别是三节指骨的拇指。虽然无法治愈，但治疗包括通过输血、手术干预和遗传咨询来控制症状。一名15岁的学生出现持续两个月的不明发热、反复肺部感染、言语困难和步态障碍。该患者有多种先天性畸形，包括三节指骨的拇指和轻度贫血史。骨髓活检显示红系成熟单独减慢。放射学研究显示脊柱侧弯、手部畸形和脑部多个钙化病变。患者发热加剧，氧饱和度恶化，需要气管插管。几小时后，患者去世。
